Digital Commons Network^™

A Novel Approach To Calculating Expected Total Fetal Lung Volume In Fetuses With Isolated Congenital Diaphragmatic Hernia And Fetal Growth Restriction: A Theoretical Computational Simulation, Morcos Hanna, Jonathan Davies, Amaryllis Fernandes, Pamela M Ketwaroo, Amy R Mehollin-Ray, Roopali Donepudi, Alice King, Joseph Hagan, Sundeep G Keswani, Sharada H Gowda, Caraciolo J Fernandes

Faculty, Staff and Students Publications

Objectives: Congenital diaphragmatic hernia (CDH) often coexists with fetal growth restriction (FGR). The observed-to-expected (O/E) total fetal lung volume (TFLV) is used to assess CDH severity, predict outcomes, and direct fetal interventions. Expected TFLV measurements traditionally rely only on gestation age (GA). This simulation assesses how incorporating weight-adjusted GA norms affects O/E TFLV calculations in patients with isolated CDH and FGR.

Methods: A simulated dataset (n=1,005) utilized published mean fetal weight and TFLV references. Computer-generated variables included observed weights (3rd-10th %ile), O/E TFLV (10-65 %), and percent liver herniation (0-42 %). GA estimates were corrected by weight and used to …

Female Cardioprotection In A Mouse Model Of Alcohol-Associated Cardiomyopathy, Joshua M. Edavettal, Meagan Donovan, Nicholas R. Harris, Xavier R. Chapa-Dubocq, Keishla M. Rodríguez-Graciani, Janos Paloczi, Liz Simon, Bysani Chandrasekar, Jason D. Gardner

School of Graduate Studies Faculty Publications

Chronic alcohol misuse is the leading cause of non-ischemic dilated cardiomyopathy, and the molecular mechanisms underlying the development of alcohol-associated cardiomyopathy (ACM), particularly regarding sex-specific susceptibility and mitochondrial contributions, are not fully known. In this study, we utilized a preclinical model of chronic + binge ethanol consumption to investigate sex differences in disease severity and mitochondrial function. Male and female C57BL/6J mice were fed ethanol or control liquid diets for 30 days, with 2 binge episodes on days 10 and 30. Cardiac morphology was assessed via echocardiography and cardiac function via left ventricular pressure-volume catheterization. Mitochondrial function was evaluated ex …

An Overview On Chemical Profile For Oil And Alcholic Tinctures Of Rosmarinus Officinalis Plants, Blerina Xhaferaj, Anila Kripa, Sokol Kocia, Lindita Vrushi, Kozeta Vaso, Aurel Nuro

UBT International Conference

This study shown data on chemical profile for oil and alcoholic tinctures of Rosmarinus officinalis cultivated populations from Durres area. Rosemary is an essential perennial aromatic, evergreen shrub belonging to the family Lamiaceae and indigenous to the Mediterranean region. This plant has branches full of green leaves that exude a characteristic fragrance. For this is widely used in culinary. Rosemary is used since ancient times in traditional medicine because of its vital health effects. Rosemary is a popular and versatile, medicinal plant, and is often used in tinctures and other home remedies. It can be used to treat respiratory infections, …

Consanguinity And Rare Genetic Disorders: Epidemiology, Case Studies, And Clinical Implications, Yllka Gashi, Anjeza Temaj, Erda Aliu, Sefedin Bilalli, Driton Selmani, Gazmend Temaj, Nexhibe Nuhi

UBT International Conference

Consanguinity, defined as reproductive unions between closely related individuals, considerably increases the probability of offspring inheriting rare autosomal recessive (AR) disorders. This review explores the effects of consanguinity on the incidence, complexity, and spectrum of inherited diseases, emphasizing rare genetic syndromes within diverse populations. Consanguinity rates vary significantly by region, directly influencing the prevalence of founder mutations and specific AR diseases. In-depth literature review and case analyses—including Joubert syndrome, mucopolysaccharidoses (MPS), epidermolysis bullosa (EB), and systemic lupus erythematosus (SLE)—underscore the increased phenotypic and genotypic heterogeneity within affected groups, often resulting in blended or unusually severe disease manifestations. Recent molecular techniques, …

Phytotherapeutic Potential Of Lawsonia Inermis And Juglans Regia In Dermatologic Care: Enhancing Patient Adherence And Outcomes Through Community Pharmacy Practice, Dafinë Kastrati Zejnullahu, Emine Daci Zejnullahi

UBT International Conference

Eczema and superficial mycoses are common, chronic dermatologic conditions that affect quality of life. Conventional therapies may cause side effects and resistance. This prospective observational study evaluated a topical emulsion containing Lawsonia inermis and Juglans regia in a community pharmacy with pharmacist-led interventions. Seventy-three adults applied the emulsion for up to 21 days. Significant improvements in erythema, scaling, and pruritus were observed, particularly in cases of chronic eczema. No adverse events occurred. Pharmacist counseling improved adherence and reduced corticosteroid use. These findings highlight the therapeutic potential of phytotherapeutics and emphasize the evolving role of community pharmacists. Further randomized trials are …

Ribosome Biogenesis, Ribosomal Protein Alterations, And Tumor Suppressor P53 In Cancer: Molecular Mechanisms And Therapeutic Opportunities, Mendorr Xharra, Yllka Gashi, Anjeza Temaj, Erda Aliu, Sefedin Bilalli, Driton Selmani, Shefki Xharra, Kumrije Xharra, Gazmend Temaj, Nexhibe Nuhi

UBT International Conference

Ribosomes, as essential cellular machines for protein synthesis, are tightly regulated in normal cells but become dysregulated during cancer development, contributing to uncontrolled proliferation and biomass accumulation. Increased ribosome biogenesis and mutations in ribosomal proteins are hallmark features of many cancers. These alterations often lead to ribosomal stress, triggering p53-mediated cellular responses, a key tumor suppressor pathway frequently mutated or inactivated in malignancies. Advances in understanding ribosome-related molecular pathways have paved the way for novel anti-cancer therapies targeting ribosome biogenesis, ribosomal protein function, and associated signaling cascades. Additionally, the formation of polyploid giant cancer cells (PGCCs) contributes to tumor heterogeneity …

Ribosome Biogenesis, Function, And Therapeutic Targeting: From Cancer To Genetic Disease, Anjeza Temaj, Yllka Gashi, Erda Aliu, Sefedin Bilalli, Driton Selmani, Gazmend Temaj, Nexhibe Nuhi

UBT International Conference

Ribosome biogenesis and function are vital for cellular protein synthesis and are profoundly altered in cancer and various genetic diseases. Enhanced ribosome production and mutations in ribosomal proteins contribute to malignancy, positioning the ribosome as a promising therapeutic target. Advances in understanding ribosomal regulation, including the pivotal tumor suppressor p53, nonsense mutation readthrough therapies, and the impact of alternative splicing, have revealed new strategies for intervention in both cancer and rare ribosomopathies. Pharmacological inhibition of ribosome biogenesis, selective ribosome editing, and modulation of post-translational modifications offer potential to disrupt tumor proliferation or restore functional proteins in genetic disorders. Technologies like …

Targeted Therapies And Molecular Advances In Pediatric Acute Lymphoblastic Leukemia: Epidemiology, Genetics, And Future Directions, Erda Aliu, Anjeza Temaj, Yllka Gashi, Driton Selmani, Sefedin Bilalli, Gazmend Temaj, Nexhibe Nuhi

UBT International Conference

Pediatric acute lymphoblastic leukemia (pALL) remains the most common childhood malignancy, comprising approximately 30% of all pediatric cancers and demonstrating remarkable heterogeneity in disease biology and treatment response. Advances in risk stratification, driven by cytogenetic and genomic profiling—including identification of aneuploidy, chromosomal translocations, and key mutations—have enabled substantial improvements in cure rates, now reaching 80-90% in developed settings. This review synthesizes current epidemiological trends, known genetic drivers such as PAX5, IKZF1, and TP53, and the implementation of precision medicine approaches. Special considerations are given to high-risk subgroups (Down syndrome–associated ALL and relapsed/refractory cases), the impact of pharmacogenetics on therapy personalization, …

Usage Of Biomaterials In Contemporary Periodontology, Lumturie Asllani Hashani, Ana Minovska, Mihajlo Petrovski, Merita Sveqla, Doruntina Shehu

UBT International Conference

The main aim of this article was to make a literature review about biomaterial-based bone replacement grafts, and membrane alternatives that can have periodontal applications. A variety of clinical methods and materials have been investigated over last decades for reparation and regeneration of periodontal defects. The available therapeutic options and their clinical outcomes have improved significantly due to the invention of advanced biomaterials for periodontal tissue engineering. Among the effective grafting materials are allografts, and their use has shown a substantial degree of bone growth and proliferation, making them a wise choice for the restoration of missing bone, caused by …

Radon Concentration Measurements In Some Enclosed Environments In The Gjilan Region, Lulzim Thaqi, Inesë Basha

UBT International Conference

The aim of this study was to assess the concentration of radon (²²²Rn) in 31 locations, including schools, public buildings, and private residences in the municipalities of Gjilan, Kamenica, and Viti, to compare the results with international standards and identify potential public health risks. Measurements were conducted during May–June 2025 using the portable AMES PRM-145 device, which detects alpha radiation through scintillation cells. The collected data were analyzed using descriptive statistical methods, calculating the average radon concentration and the annual effective dose according to UNSCEAR and ICRP (2009) models. The results revealed elevated concentrations in several sites, with the highest …

Evaluation Of Dental Arch Width And Its Correlation With Gender And Age In Adolescents With Early Permanent Dentition, Delvina Panxhaj, Jeta Kubati Kiseri

UBT International Conference

The development of the dental arch during adolescence represents a crucial period for shaping the orofacial structure and orthodontic planning. The main objective was to assess whether significant differences exist in these parameters depending on gender and age.In this study, conducted at the University for Business and Technology (UBT) in Pristina, the morphometric dimensions of the mandibular arch—specifically intercanine width, intermolar width, and arch length—were analyzed in a sample of 40 dental study models. Participants were divided into two age groups: the first group included study models of children aged 1213, and the second group included those aged 13–14; in …

Revolutionizing Dentistry With Artificial Intelligence, Dugagjin Sokoli, Genc Demjaha, Vlora Berisha, Teuta Komoni, Arta Gjikolli, Krenare Mehmeti, Saranda Dermaku, Donika Arifi

UBT International Conference

The integration of Artificial Intelligence (AI) into dentistry represents a paradigm shift in diagnostic accuracy and treatment planning. Traditional approaches to radiographic interpretation, implantology, and prosthodontics, while effective, are inherently limited by inter-operator variability, time constraints, and the complexity of patient-specific factors. Recent advances in AI, including machine learning, deep learning, and predictive analytics, provide tools capable of analyzing large, complex datasets with precision and consistency beyond human capability. This paper aims to critically examine the role of AI in enhancing diagnostic accuracy and optimizing treatment planning in dentistry. A comprehensive literature review highlights AI’s significant contributions across three main …

International Conference On Pharmaceutical And Natural Sciences, University For Business And Technology (Ubt) In Kosovo

UBT International Conference

UBT Annual International Conference is the 14th international interdisciplinary peer reviewed conference which publishes works of the scientists as well as practitioners in the area where UBT is active in Education, Research and Development. The UBT aims to implement an integrated strategy to establish itself as an internationally competitive, research-intensive university, committed to the transfer of knowledge and the provision of a world-class education to the most talented students from all background. The main perspective of the conference is to connect the scientists and practitioners from different disciplines in the same place and make them be aware of the recent …

A Structured, Competency-Based Framework For Aspiring Cardiothoracic Surgeons, Adham Ahmed, Samantha Colon, Gianna J. Dafflisio, Purab Kothari, Nina Uzoigwe, Alice Zhou, Juli Buchwald, Betemariam Sharew, Carter Glenn, Steven Medvedovsky, Justin Olivera, Ryan Kramer, Gabrielle Colon, Jonathan M. Tomasko, Sara J. Pereira, Mara Antonoff, Marc Pelletier, Irbaz Hameed

Student Papers, Posters & Projects

OBJECTIVE: Cardiothoracic surgery requires mastery of a broad knowledge base and advanced skillset to manage critically ill patients. Although competency-based assessment frameworks have been developed in several specialties, there remains a paucity of resources to guide practical progression for early cardiothoracic surgical trainees.

METHODS: Members of the Thoracic Surgery Residents Association, Thoracic Surgery Medical Student Association, and attending cardiothoracic surgeons with a strong track record of surgical education were invited to share their insights and experiences. A structured, milestone-driven roadmap was developed on the basis of their contributions.

RESULTS: We developed a structured, competency-based framework for early surgical trainees, with …

Overview Of Exosomal Non-Coding Rnas In Cardiovascular Disease Using High Throughput Sequencing, Mortaza Eivazi, Leila Abkhooie, Kamran Hosseini, Parnia Mobasheran, Tahereh Ebrahimi, Vahideh Tarhriz, Eric Lazartigues

School of Graduate Studies Faculty Publications

Non-coding RNAs including miRNAs, long-ncRNAs, and circular RNAs play crucial roles in cell-to-cell communication and epigenetic regulation. They control gene expression at multiple levels, including transcriptional, post-transcriptional, and translational, thereby influencing associated signaling pathways. Encapsulated within exosomes, micro-vesicles, and apoptotic bodies, ncRNAs can be transported between cells while being protected from harsh environmental conditions. Studies have shown various expression patterns across different cell types and in various physiological and pathological states. However, the precise correlations and extent of their contribution to diseases are still under investigation. Recent studies have reported the involvement of extracellular vesicle-associated ncRNAs in the pathogenesis of …

Predicting Intravitreal Treatment Response Using Ultrawide-Field Angiographic Biomarkers In Diabetic Retinopathy, Karthik Reddy, Callie Deng, Boonkit Purt, Yue Liang, Nikhil Bommakanti, Gina Yu, Julie Rosenthal, Yannis M. Paulus

Wills Eye Hospital Papers

BACKGROUND: Diabetic retinopathy (DR) is a sight-threatening retinal disease with pathological mediation by vascular endothelial growth factor (VEGF). Intravitreal anti-VEGF injections are commonly used to manage DR. Ultra-wide-field fluorescein angiography (UWF-FA) can assess DR severity and characterize the amount of non-perfused retina (non-perfusion area, NP), neovascularization (neovascular area, NV), and foveal avascular zone (FAZ). However, the association between anti-VEGF treatment and NP, NV, and FAZ characterized by UWF-FA is not well established.

METHODS: A retrospective, single-center cohort study involved eyes of patients with Type 1 or 2 diabetes mellitus with at least one UWF-FA image. The area of the FAZ, …

Decreasing Barriers To The Utilization Of Cryopreserved Sperm In Male Cancer Survivors: An Expert Review And Guide, Megan V Alexander, Hailie Ciomperlik, Anna Claire Reynolds, Allyson Nevins, Luwam Ghidei, Jordan Kassab, Kevin Campbell, John Sullivan, Michael D Jochum, Laura Detti, Terri L Woodard, Larry I Lipshultz, Laurie J Mckenzie

Faculty, Staff and Students Publications

Cryopreservation of sperm offers male cancer patients a critical opportunity to preserve fertility prior to gonadotoxic treatments. Despite its increasing availability, utilization rates remain modest at typically less than ten percent. This expert review provides a framework for an optimal Oncofertility Patient Care Pathway, explores the multifaceted barriers to cryopreserved sperm use, and proposes specific solutions. We focus on key timepoints for intervention, including the post-treatment fertility care return visit, continued sperm cryopreservation while remote from family building, eventual readiness for family building, and posthumous considerations. Patients often face difficulty engaging in post-treatment reproductive follow-up, with one-third of patients missing …

Ocular Myasthenia Gravis: A Case Report, Erica Vanderpool Od, Carla Gilbertson Kuiken Od

Optometric Clinical Practice

Background: Myasthenia gravis (MG) is an autoimmune disease caused by faulty transmission at the neuromuscular junction leading to fatigable muscular weakness. Ocular MG is distressing in that it can cause visual difficulties, but generalized MG can be life-threatening. MG is an acquired disorder that can easily be overlooked in clinic and is commonly misdiagnosed. Providers should be aware of the clinical features of this condition, as well as the critical testing needed to confirm the diagnosis so the appropriate management course can be implemented.

Case Report: This case features a 67-year-old Caucasian male diagnosed with ocular myasthenia gravis …

Cryopreserved Amniotic Membrane For Corneal Epithelial Abrasions: Case Series, Laura Goldberg Od

Optometric Clinical Practice

Background: Corneal abrasions are one of the most frequent ocular conditions encountered in the emergency department and can lead to significant morbidity and visual impairment. Amniotic membrane has inherent anti-inflammatory and anti-scarring properties that help accelerate epithelialization and help prevent the complications known to be associated with corneal injuries. Herein we assessed the time till complete epithelialization after in-office application of cryopreserved amniotic membrane in cases of traumatic corneal abrasions in the acute setting.

Case Reports: A total of ten eyes (5 right eye; 5 left eye) of ten consecutive patients (8 Male; 2 Female; average age 40.9 ± 17.8 …

14th International Conference On Business, Technology And Innovation 2025, University For Business And Technology - Ubt

UBT International Conference

Welcome to IC – UBT 2025

UBT Annual International Conference is the 14th international interdisciplinary peer reviewed conference which publishes works of the scientists as well as practitioners in the area where UBT is active in Education, Research and Development. The UBT aims to implement an integrated strategy to establish itself as an internationally competitive, research-intensive university, committed to the transfer of knowledge and the provision of a world-class education to the most talented students from all background. The main perspective of the conference is to connect the scientists and practitioners from different disciplines in the same place and make …

Additive Effects Of N-Acetylcysteine And [R4W4] Combination Treatment On Mycobacterium Avium, Kayvan Sasaninia, Iffat Hasnin Era, Nezam Newman, Jesse Melendez, Wajiha Akif, Eashan Sharma, Omid Nikjeh, Ira Glassman, Cristián Jiménez, Navya Sharma, Ama Xu, Maria Lambros, Miou Zhou, Rakesh Tiwari, Vishwanath Venketaraman

Pharmacy Faculty Articles and Research

Mycobacterium avium is an opportunistic pathogen and a leading contributor to nontuberculous mycobacterial infections in immunocompromised individuals. However, treatment duration, antibiotic toxicity, and resistance present challenges in the management of mycobacterium infections, prompting the need for novel treatment. N-acetylcysteine (NAC) has demonstrated potent antimycobacterial activity, while antimicrobial peptides such as the cyclic [R₄W₄] have shown additive effects when combined with first-line antibiotics. This study aimed to investigate the mechanism and efficacy of NAC and [R₄W₄] combination therapy against M. avium. A membrane depolarization assay was used to evaluate the effects of …

Transgenerational Adaptation To Hypoxia, Kathleen Kim, Ariel Telger, Gautam Sarkar, Sharan Surya, M Hafiz Rothi, Michael P Meers, Simon Yuan Wang, Eric Lieberman Greer

2020-Current year OA Pubs

Epigenetic inheritance alerts naïve descendants to prepare for stresses that could still be present, whereas distant descendants return to a basal state after several generations without stress. However, organisms are frequently exposed to stresses successively across generations. We found that parental hypoxia exposure increased P0 longevity, caused intergenerational lipid reduction, and elicited transgenerational fertility reduction that was dependent on generationally transmitted small RNAs. Here, we find that

Transdiagnostic Alterations In White Matter Microstructure Associated With Suicidal Thoughts And Behaviours In The Enigma Suicidal Thoughts And Behaviours Consortium, Laura S. Van Velzen, Alexander S. Hatoum, Et Al.

2020-Current year OA Pubs

No abstract provided.

The Mycancergene Study: A Hybrid Type 1 Effectiveness-Implementation Randomized Study Comparing A Patient-Centered Digital Genetic Health Portal To Usual Care After Receipt Of Cancer Genetic Testing, Daniel Chavez-Yenter, Dominique Fetzer, Brian Egleston, Susan Domchek, Linda Fleisher, Lynne Wagner, Kuang-Yi Wen, Kelsey Karpink, Lauren Gutstein, Shelby Posen, Enida Selmani, Briana Mcleod, Arravinth Anantharajah, Sarah Brown, Cara Cacioppo, Jacqueline Cappadocia, Jessica Ebrahimzadeh, Dana Falcone, Sarah Howe, Claire Langer, Beth Mccarthy-Wood, Michelle Weinberg, Angela Bradbury

Department of Medical Oncology Faculty Papers

BACKGROUND: Genetic testing has become more complex with the transition from single gene testing to multi-gene panels and whole-exome sequencing. The adoption of more complex genetic testing and the promise of precision medicine has created a critical and urgent need for longitudinal clinical follow-up with patients who undergo cancer genetic testing given the residual uncertainty. There is an increasing need for multidisciplinary translational research that focuses on how to advance precision medicine discoveries into clinical practice and to capitalize on connectivity (e.g. digital health) interventions in ways that optimize cancer risk reducing behaviors in real-world clinical populations.

METHODS: The overall …

Setdb1 Is Critically Required For Uveal Melanoma Growth And Represents A Promising Therapeutic Target, Imène Krossa, Céline Pisibon, Yann Cheli, Karine Bille, Mélanie Dalmasso, Sabah Hamadat, Chrystel Husser, Marie Irondelle, Julien Cherfils-Vicini, Frédéric Soysouvanh, Sacha Nahon-Esteve, Arnaud Martel, Sandra Lassalle, Jean-Pierre Caujolle, Célia Maschi, Stéphanie Baillif, Dan Hasson, Saul Carcamo, Andrerw E. Aplin, Irwin Davidson, Emily Bernstein, Valeria Naim, Robert Ballotti, Corine Bertolotto, Thomas Strub

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Metastatic uveal melanomas are highly resistant to all existing treatments. To identify actionable vulnerabilities, we conducted a CRISPR-Cas9 knockout screen using a library composed of chromatin regulators. We revealed that the lysine methyltransferase, SETDB1, plays a critical role in metastatic uveal melanoma cell proliferation and survival. Functionally, SETDB1 deficiency induces a DNA damage response, senescence-like state and growth arrest. Knockdown of SETDB1 is associated with a decreased expression of genes related to replication and cell cycle. Moreover, deficiency in CDC6, an essential regulator of DNA replication, phenocopies SETDB1 inhibition. Using a pre-clinical model, we further demonstrated that anti-SETDB1 therapy impairs …

Positron Emission Tomography Reveals Increased Myocardial Glucose Uptake In A Subset Of Friedreich Ataxia Patients, R Mark Payne, Thomas M O'Connell, P Melanie Pride, Gregg R Wagner, George J Eckert, Tiffany R Johnson, Weinian Shou, Gary D Hutchins

Faculty, Staff and Student Publications

Why some but not all patients with the rare disease Friedreich ataxia (FRDA) are at increased risk of poor cardiovascular outcome and death is unclear and unpredictable. We investigated the hypothesis that mitochondrial dysfunction in FRDA leads to altered patterns of myocardial metabolic substrate utilization. We recruited 5 healthy controls (Ctl) and 11 FRDA participants. All underwent fasting myocardial positron emission tomography (PET scan) with 15O–H2O, 18F-FDG, and 11C-Palmitate. We conducted cardiac transcriptomics on mice with ablation of the Frda gene in heart to explore mechanisms of fuel substrate utilization. Five (45%) FRDA participants had an LV mass index (LVMi) …

Transdiagnostic Alterations In White Matter Microstructure Associated With Suicidal Thoughts And Behaviours In The Enigma Suicidal Thoughts And Behaviours Consortium, Laura S Van Velzen, Lejla Colic, Zuriel Ceja, Maria R Dauvermann, Luca M Villa, Hannah S Savage, Yara J Toenders, Niousha Dehestani, Alyssa H Zhu, Adrian I Campos, Lauren E Salminen, Martin Alda, Ingrid Agartz, Nina Alexander, Rosa Ayesa-Arriola, Elizabeth D Ballard, Nerisa Banaj, Carlotta Barkhau, Zeynep Başgöze, Jochen Bauer, Francesco Benedetti, Klaus Berger, Bianca Besteher, Katharina Brosch, Manuel Canal-Rivero, Simon Cervenka, Romain Colle, Colm G Connolly, Emmanuelle Corruble, Philippe Courtet, Baptiste Couvy-Duchesne, Benedicto Crespo-Facorro, Kathryn R Cullen, Udo Dannlowski, Jeremy Deverdun, Ana M Diaz-Zuluaga, Lorielle M F Dietze, Jennifer W Evans, Negar Fani, Kira Flinkenflügel, Naomi P Friedman, Ian H Gotlib, Nynke A Groenewold, Dominik Grotegerd, Tomas Hajek, Alexander S Hatoum, Marco Hermesdorf, Ian B Hickie, Yoshiyuki Hirano, Tiffany C Ho, Yuki Ikemizu, Frank Iorfino, Jonathan C Ipser, Yuko Isobe, Andrea P Jackowski, Fabrice Jollant, Tilo Kircher, Melissa Klug, Sheri-Michelle Koopowitz, Anna Kraus, Axel Krug, Emmanuelle Le Bars, Elisabeth J Leehr, Meng Li, Elizabeth T C Lippard, Carlos Lopez-Jaramillo, Ivan I Maximov, Andrew M Mcintosh, Katie A Mclaughlin, Sean R Mcwhinney, Susanne Meinert, Elisa Melloni, Philip B Mitchell, Benson Mwangi, Igor Nenadić, Stener Nerland, Emilie Olie, Victor Ortiz-García De La Foz, Pedro M Pan, Fabricio Pereira, Fabrizio Piras, Federica Piras, Sara Poletti, Andrew E Reineberg, Gloria Roberts, Rafael Romero-García, Matthew D Sacchet, Giovanni A Salum, Anca-Larisa Sandu, Carl M Sellgren, Eiji Shimizu, Harry R Smolker, Jair C Soares, J Douglas Steele, Frederike Stein, Dan J Stein, Benjamin Straube, Lea Teutenberg, Florian Thomas-Odenthal, Paula Usemann, Romain Valabregue, Johanna Valencia-Echeverry, Gerd Wagner, Gordon Waiter, Martin Walter, Heather C Whalley, Mon-Ju Wu, Tony T Yang, Carlos A Zarate, Andre Zugman, Giovana B Zunta-Soares, Kees Van Heeringen, Sanne J H Van Rooij, Nic Van Der Wee, Steven Van Der Werff, Paul M Thompson, Hilary P Blumberg, Anne-Laura Van Harmelen, Miguel E Rentería, Neda Jahanshad, Enigma Suicidal Thoughts And Behaviours Consortium, Lianne Schmaal

Faculty, Staff and Student Publications

Previous studies have suggested that alterations in white matter (WM) microstructure are implicated in suicidal thoughts and behaviours (STBs). However, findings of diffusion tensor imaging (DTI) studies have been inconsistent. In this large-scale mega-analysis conducted by the ENIGMA Suicidal Thoughts and Behaviours (ENIGMA-STB) consortium, we examined WM alterations associated with STBs. Data processing was standardised across sites, and resulting WM microstructure measures (fractional anisotropy (FA), axial diffusivity (AD), mean diffusivity and radial diffusivity) for 24 WM tracts and one global measure were pooled across 40 cohorts. We compared these measures among individuals with a psychiatric diagnosis and lifetime history of …

Leptin As A Key Driver For Organ Fibrogenesis, Xue-Nan Sun, Shiuhwei Chen, Shangang Zhao, Jan-Bernd Funcke, Megan Virostek, Line Pedersen, Chao Li, Chanmin Joung, Qian Lin, Yan Li, Ayanna Cobb, May-Yun Wang, Kyounghee Min, Lisandro Maya-Ramos, Giovanna Degasperi, Junquan Liu, Ningyan Zhang, Zhiqiang An, Diana R Tomchick, R Max Wynn, Da Young Oh, Philipp E Scherer

Faculty, Staff and Student Publications

Leptin, a hormone primarily secreted by adipocytes, regulates energy balance and systemic metabolism through its interaction with the leptin receptor (LEPR). Beyond these functions, leptin signaling has been implicated in the pathogenesis of tissue fibrosis. Here, we report the x-ray crystal structures of a leptin-neutralizing antibody (hLep3) in the unbound and leptin-bound states. The interaction of this antibody with leptin mimics the interaction of the LEPR with leptin, providing direct insights into the mechanism by which the antibody disrupts leptin signaling. We furthermore evaluate the therapeutic potential of neutralizing leptin with this antibody across distinct mouse models of fibrosis affecting …

Racial Disparities In Clonal Hematopoiesis And Their Impact On Hematologic Malignancies, Zijian Zhang, Chao Cheng

Faculty, Staff and Students Publications

Clonal hematopoiesis of indeterminate potential (CHIP) is a known risk factor for hematologic malignancies (HM), but its distribution and clinical implications across diverse ancestries remain poorly characterized. In this study, we investigated CHIP and its progression to HM in a large, racially diverse cohort from the All of Us Research Program, comprising 245,388 participants. We identified 10,446 CHIP driver mutations in 9,476 individuals. Our analysis revealed clear racial disparities in CHIP prevalence and mutational profiles: African American (AA) individuals had higher odds of CHIP and exhibited distinct mutation patterns compared to White American (WA) individuals. Consistent with prior studies, CHIP …

Whole-Genome Sequencing Reveals Individual And Cohort Level Insights Into Chromosome 9p Syndromes, Yingxi Wang, Eleanor I Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy, Ying-Chen Claire Hou, Christopher Markovic, Kostandin Valle, Victoria Tate, Khadija Belhassan, Elizabeth Appelbaum, Titilope Akinwe, Rodrigo T Starosta, Yang Cao, Amber Neilson, Yu Liu, Nathaniel Jensen, Reza Ghasemi, Tina Lindsay, Juana Manuel, Sophia Couteranis, Milinn Kremitzki, Jack Ustanik, Thomas Antonacci, Jeffrey K Ng, Andrew Emory, Laura Metz, Tracie Deluca, Katherine N Lyons, Toni Sinnwell, Brianne Thomeczek, Kymme Wang, Nick Sisneros, Megha Muraleedharan, Anantha Kethireddy, Marco Corbo, Harsha Gowda, Katherine A King, Christina A Gurnett, Susan K Dutcher, Catherine Gooch, Yang E Li, Matthew W Mitchell, Kevin A Peterson, Amjad Horani, Jill A Rosenfeld, Weimin Bi, Pawel Stankiewicz, Hsiao-Tuan Chao, Jennifer E Posey, Christopher M Grochowski, Zain Dardas, Erik G Puffenberger, Christopher E Pearson, Frank Kooy, Dale Annear, A Micheil Innes, Michael Heinz, Richard Head, Robert Fulton, Stephan Toutain, 9p-Arch, Lucinda Antonacci-Fulton, Xiaoxia Cui, Robi D Mitra, F Sessions Cole, Julie Neidich, Patricia I Dickson, Jeffrey Milbrandt, Tychele N Turner

Faculty, Staff and Students Publications

Background: Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low-resolution strategies (i.e., karyotypes, chromosome microarrays). These studies have provided important initial insights into these syndromes. This current study is the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with chromosome 9p syndromes.

Methods: Through the newly formed 9P-ARCH (Advanced Research in Chromosomal Health: Genomic, Phenotypic, and Functional Aspects of 9p-Related syndromes) research network, we assembled a cohort of individuals from families with chromosome 9p syndromes. WGS was applied to 100 individuals, and other genomic technologies were applied to a subset of individuals. To …